Varaico: Literature-Extracted Genetic Variants

Gene:NF1
Variant:p.Y2285fs
Back to variants list

NF1

NM_001042492.3:p.Y2285fs

Associated Papers

High-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.

Kim J et al.

The Journal of Molecular Diagnostics : Jmd, 2026

Clinical outcomes of genomically guided trametinib monotherapy across cancer types: results from the IMPRESS-Norway trial.

Slørdahl KS et al.

Acta Oncologica (stockholm, Sweden), 2026

41664938 (PubMed )
Supplement: AO-65-45086-s1.pdf

Germline Cancer Predisposition Results From the National Cancer Institute-Children's Oncology Group Pediatric MATCH Trial.

Scollon S et al.

Jco Precision Oncology, 2025

41166674 (PubMed )
Supplement: po-9-e2500742-s001.pdf

Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.

Lucas CG et al.

Neuro-oncology, 2025

39560080 (PubMed )
Supplement: noae214_suppl_supplementary_tables.xlsx › Table_S5

Exploring Genomic Biomarkers for Pembrolizumab Response: A Real-World Approach and Patient Similarity Network Analysis Reveal DNA Response and Repair Gene Mutations as a Signature.

Filetti M et al.

Cancers, 2024

39682144 (PubMed )
Supplement: cancers-16-03955-s001.zip › Table_S4.xlsx › Table_S4

A Comprehensive Overview of NF1 Mutations in Iranian Patients.

Savad S et al.

Neuromolecular Medicine, 2024

Impact of deep phenotyping: high diagnostic yield in a diverse pediatric population of 172 patients through clinical whole-genome sequencing at a single center.

Akgun-Dogan O et al.

Frontiers in Genetics, 2024

38560291 (PubMed )
Supplement: Table2.XLSX › Sheet1

Genomic profiling of NSCLC tumors with the TruSight oncology 500 assay provides broad coverage of clinically actionable genomic alterations and detection of known and novel associations between genomic alterations, TMB, and PD-L1.

Wallen ZD et al.

Frontiers in Oncology, 2024

39664186 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2

Myeloid/lymphoid neoplasm with a novel cryptic RBPMS::FGFR1 rearrangement presenting as de novo acute leukemias.

Yang T et al.

Leukemia & Lymphoma, 2023

Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.

Rosenberg S et al.

Molecular Oncology, 2023

36694946 (PubMed )
Supplement: MOL2-17-1844-s003.xlsx › 2b._All_genes

The Challenges and Opportunities of the Implementation of Comprehensive Genomic Profiling in Everyday Clinical Practice with Non-Small Cell Lung Cancer: National Results from Croatia.

Čerina D et al.

Cancers, 2023

37444505 (PubMed )
Supplement: cancers-15-03395-s001.zip › cancers-2455242-supplementary.xlsx › Specific_alterations

Contribution of Somatic Ras/Raf/Mitogen-Activated Protein Kinase Variants in the Hippocampus in Drug-Resistant Mesial Temporal Lobe Epilepsy.

Khoshkhoo S et al.

Jama Neurology, 2023

P16 immunohistochemistry is a sensitive and specific surrogate marker for CDKN2A homozygous deletion in gliomas.

Vij M et al.

Acta Neuropathologica Communications, 2023

37138345 (PubMed )
Supplement: 40478_2023_1573_MOESM1_ESM.xlsx › Data1

Genomic profiling of idiopathic peri-hilar cholangiocarcinoma reveals new targets and mutational pathways.

Quinn LM et al.

Scientific Reports, 2023

Adult Low-Hypodiploid Acute Lymphoblastic Leukemia Emerges from Preleukemic TP53-Mutant Clonal Hematopoiesis.

Kim R et al.

Blood Cancer Discovery, 2023

36630200 (PubMed )
Supplement: bcd-22-0154_supplementary_tables_s1-s11_suppst1-st11.xlsx › TableS2

Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.

Zhang Y et al.

Neuro-oncology, 2022

35395677 (PubMed )
Supplement: noac089_suppl_supplementary_tables_s1-s11.xlsx › Table_S5_SNV_data

Multi-Platform Classification of IDH-Wild-Type Glioblastoma Based on ERK/MAPK Pathway: Diagnostic, Prognostic and Therapeutic Implications.

Georgescu MM

Cancers, 2021

34572759 (PubMed )
Supplement: cancers-13-04532-s001.zip › cancers-1328061-supplementary.pdf

Analytical Performance of NGS-Based Molecular Genetic Tests Used in the Diagnostic Workflow of Pheochromocytoma/Paraganglioma.

Sarkadi B et al.

Cancers, 2021

The Mutational Landscape of Acute Myeloid Leukaemia Predicts Responses and Outcomes in Elderly Patients from the PETHEMA-FLUGAZA Phase 3 Clinical Trial.

Ayala R et al.

Cancers, 2021

34070172 (PubMed )
Supplement: cancers-13-02458-s001.zip › cancers-1203671-supplementary › Table_S8.xlsx › Hoja2

Invasive apocrine carcinoma of the breast: clinicopathologic features and comprehensive genomic profiling of 18 pure triple-negative apocrine carcinomas.

Sun X et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2020

Is There an Independent Role of TERT and NF1 in High Grade Gliomas?

Razis E et al.

Translational Oncology, 2020

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Muscat AM et al.

Oncotarget, 2018

29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2

The investigation for potential modifier genes in patients with neurofibromatosis type 1 based on next-generation sequencing.

Yang F et al.

Oncotargets and Therapy, 2018

Genomic Profiling of Large-Cell Neuroendocrine Carcinoma of the Lung.

Miyoshi T et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

27507618 (PubMed )
Supplement: 10780432ccr160355-sup-162074_1_supp_3593422_88n10b.xlsx › Supplementary_Table_7_

Transcriptome meta-analysis of lung cancer reveals recurrent aberrations in NRG1 and Hippo pathway genes.

Dhanasekaran SM et al.

Nature Communications, 2014

25531467 (PubMed )
Supplement: NIHMS643650-supplement-1.pdf

Mutation profiling in cholangiocarcinoma: prognostic and therapeutic implications.

Churi CR et al.

Plos One, 2014

25536104 (PubMed )
Supplement: pone.0115383.s001.xlsx › Sheet_1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."